Literature DB >> 25015942

Erythrocytosis associated with a novel missense mutation in the BPGM gene.

Nayia Petousi1, Richard R Copley2, Terence R J Lappin3, Sally E Haggan4, Celeste M Bento5, Holger Cario6, Melanie J Percy4, Peter J Ratcliffe7, Peter A Robbins8, Mary Frances McMullin9.   

Abstract

Entities:  

Keywords:  BGPM mutation-associated erythrocytosis

Mesh：

Substances：

Year:  2014        PMID： 25015942      PMCID： PMC4181271          DOI： 10.3324/haematol.2014.109306

Source DB:  PubMed          Journal:  Haematologica        ISSN： 0390-6078            Impact factor:   9.941


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  12 in total

1.  Purification of bisphosphoglyceromutase, 2,3-bisphosphoglycerate phosphatase and phosphoglyceromutase from human erthrocytes. Three enzyme activities in one protein.

Authors:  R Sasaki; K Ikura; E Sugimoto; H Chiba
Journal:  Eur J Biochem       Date:  1975-01-15

2.  Oxygenation and ion transport in red cells.

Authors:  R Benesch; R E Benesch
Journal:  Science       Date:  1968-04-05       Impact factor: 47.728

3.  Seeing the process of histidine phosphorylation in human bisphosphoglycerate mutase.

Authors:  Yanli Wang; Lin Liu; Zhiyi Wei; Zhongjun Cheng; Yajing Lin; Weimin Gong
Journal:  J Biol Chem       Date:  2006-10-18       Impact factor: 5.157

4.  Molecular study of congenital erythrocytosis in 70 unrelated patients revealed a potential causal mutation in less than half of the cases (Where is/are the missing gene(s)?).

Authors:  Celeste Bento; Helena Almeida; Tabita M Maia; Luís Relvas; Ana C Oliveira; Cédric Rossi; François Girodon; Carlos Fernandez-Lago; Ascension Aguado-Diaz; Cristina Fraga; Ricardo M Costa; Ana L Araújo; João Silva; Helena Vitória; Natalina Miguel; Maria Pedro Silveira; Guillermo Martin-Nuñez; Maria Letícia Ribeiro
Journal:  Eur J Haematol       Date:  2013-08-20       Impact factor: 2.997

5.  Natural and artificial mutants of the human 2,3-bisphosphoglycerate as a tool for the evaluation of structure-function relationships.

Authors:  M C Garel; V Lemarchandel; M O Prehu; M C Calvin; N Arous; R Rosa; J Rosa; M Cohen-Solal
Journal:  Biomed Biochim Acta       Date:  1990

6.  ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.

Authors:  Kai Wang; Mingyao Li; Hakon Hakonarson
Journal:  Nucleic Acids Res       Date:  2010-07-03       Impact factor: 16.971

7.  Erythrocytosis due to bisphosphoglycerate mutase deficiency with concurrent glucose-6-phosphate dehydrogenase (G-6-PD) deficiency.

Authors:  James D Hoyer; Steven L Allen; Ernest Beutler; Kathleen Kubik; Carol West; Virgil F Fairbanks
Journal:  Am J Hematol       Date:  2004-04       Impact factor: 10.047

8.  The first case of a complete deficiency of diphosphoglycerate mutase in human erythrocytes.

Authors:  R Rosa; M O Prehu; Y Beuzard; J Rosa
Journal:  J Clin Invest       Date:  1978-11       Impact factor: 14.808

9.  Compound heterozygosity in a complete erythrocyte bisphosphoglycerate mutase deficiency.

Authors:  V Lemarchandel; V Joulin; C Valentin; R Rosa; F Galactéros; J Rosa; M Cohen-Solal
Journal:  Blood       Date:  1992-11-15       Impact factor: 22.113

10.  Study of a kindred with partial deficiency of red cell 2,3-diphosphoglycerate mutase (2,3-DPGM) and compensated hemolysis.

Authors:  S F Travis; J Martinez; J Garvin; J Atwater; P Gillmer
Journal:  Blood       Date:  1978-06       Impact factor: 22.113
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  8 in total

Review 1.  Investigation and Management of Erythrocytosis.

Authors:  Mary Frances McMullin
Journal:  Curr Hematol Malig Rep       Date:  2016-10       Impact factor: 3.952

2.  Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Authors:  Mary Frances McMullin
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

3.  Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.

Authors:  Naseema Gangat; Jennifer L Oliveira; Tavanna R Porter; James D Hoyer; Aref Al-Kali; Mrinal M Patnaik; Animesh Pardanani; Ayalew Tefferi
Journal:  Haematologica       Date:  2022-05-01       Impact factor: 11.047

Review 4.  Genetic Background of Congenital Erythrocytosis.

Authors:  Mary Frances McMullin
Journal:  Genes (Basel)       Date:  2021-07-28       Impact factor: 4.096

5.  Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Authors:  Carme Camps; Nayia Petousi; Celeste Bento; Holger Cario; Richard R Copley; Mary Frances McMullin; Richard van Wijk; Peter J Ratcliffe; Peter A Robbins; Jenny C Taylor
Journal:  Haematologica       Date:  2016-09-20       Impact factor: 9.941

Review 6.  Erythrocytosis: genes and pathways involved in disease development.

Authors:  Jernej Gašperšič; Aleša Kristan; Tanja Kunej; Irena Preložnik Zupan; Nataša Debeljak
Journal:  Blood Transfus       Date:  2020-12-16       Impact factor: 3.443

7.  The Genomic Complexity of a Large Inversion in Great Tits.

Authors:  Vinicius H da Silva; Veronika N Laine; Mirte Bosse; Lewis G Spurgin; Martijn F L Derks; Kees van Oers; Bert Dibbits; Jon Slate; Richard P M A Crooijmans; Marcel E Visser; Martien A M Groenen
Journal:  Genome Biol Evol       Date:  2019-07-01       Impact factor: 3.416

8.  Screening of Potential Biomarkers in the Peripheral Serum for Steroid-Induced Osteonecrosis of the Femoral Head Based on WGCNA and Machine Learning Algorithms.

Authors:  Jian Zhang; Chi Huang; Zehan Liu; Shuai Ren; Zilong Shen; Kecheng Han; Weiguang Xin; Guanyi He; Jianyu Liu
Journal:  Dis Markers       Date:  2022-02-10       Impact factor: 3.434
  8 in total

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